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41.
Y H Chou E M Brown T Levi G Crowe A B Atkinson H J Arnqvist G Toss G E Fuleihan J G Seidman C E Seidman 《Nature genetics》1992,1(4):295-300
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant syndrome of unknown aetiology characterized by lifelong elevation in serum calcium concentration and low urinary calcium excretion. These features suggest that the causal gene is important for maintenance of extracellular calcium homeostasis by the parathyroid gland and kidney. To identify the chromosomal location of FHH gene(s), we clinically evaluated 114 individuals in four unrelated affected families and performed linkage analyses. The disease gene mapped to the long arm of chromosome 3 in each family (combined maximum multipoint lod score = 20.67). We suggest that this is the predominant FHH locus and anticipate that identification of the FHH gene will improve our understanding of the molecular basis for physiologic and pathologic regulation of calcium. 相似文献
42.
Health care in England is divided into the acute- and primary-care sectors. In the inner city the primary-care sector suffers from a number of ills that would be relieved by the introduction of a form of health care intermediate to it and the acute sector. This paper illustrates how members of the Department of General Practice at the University of Liverpool set about exploring the problems of the inner city and its health-care provision, as a means of arriving at a preliminary design for an intermediate-care service provision. The design was to form the basis for negotiations with other interested parties over the introduction of intermediate care in the inner city. The approach adopted was based on the soft systems methodology of P. B. Checkland. However, a number of variations on the traditional soft systems methodology were introduced, not the least of which was the introduction of new systemic metaphor into the root definition and conceptual modeling stages. 相似文献
43.
Like many discussions on the pros and cons of epistemic foundationalism, the debate between C. I. Lewis and H. Reichenbach dealt with three concerns: the existence of basic beliefs, their nature, and the way in which beliefs are related. In this paper we concentrate on the third matter, especially on Lewis’s assertion that a probability relation must depend on something that is certain, and Reichenbach’s claim that certainty is never needed. We note that Lewis’s assertion is prima facie ambiguous, but argue that this ambiguity is only apparent if probability theory is viewed within a modal logic. Although there are empirical situations where Reichenbach is right, and others where Lewis’s reasoning seems to be more appropriate, it will become clear that Reichenbach’s stance is the generic one. We conclude that this constitutes a threat to epistemic foundationalism. 相似文献
44.
Stereological principles have been used to evaluate ultrastructural changes which accompany the transformation of lymphocytes stimulated in vivo with dinitrochlorobenzene (DNCB). Whereas unstimulated lymphocytes and blast cells have slightly more than the minimal containing plasmalemmal surface for their volume, stimulated (blast-derived) lymphocytes have an excess surface area in the order of 30%. This observation is discussed in the context of altered cell function and the biosynthesis of additional membrane components. 相似文献
45.
M. M. Al-Hamdani M. E. Atkinson T. M. Mayhew 《Cellular and molecular life sciences : CMLS》1979,35(3):398-400
Summary Stereological principles have been used to evaluate ultrastructural changes which accompany the transformation of lymphocytes stimulated in vivo with dinitrochlorobenzene (DNCB). Whereas unstimulated lymphocytes and blast cells have slightly more than the minimal containing plasmalemmal surface for their volume, stimulated (blast-derived) lymphocytes have an excess surface area in the order of 30%. This observation is discussed in the context of altered cell function and the biosynthesis of additional membrane components.We wish to thank Prof. R. Barer for his continued support and encouragement. The work was undertaken by M.M. A.-H. in part fulfilment of requirements for the degree of Ph. D. in this department. M.M. A-H. was supported by the Ministry of Higher Education and Scientific Research, Government of Iraq. 相似文献
46.
通过电阻加热方法实现了加热速度为 1 000—5 000℃/s,由此使铁及低碳钢的再结晶温度由 650℃降为 610℃,这一新型的热处理方法——超快速退火法(Ultra-rapid annealing),可以在不到一秒钟的时间内有效地软化材料,使其具有良好的机械性能,而且再结晶机理也要发生变化。在加热速度 1 000 ℃/s以上,回复效应随加热速率的提高而降低。本文重点研究了脱碳、脱氮钢,用超快速退火处理后,材料的最低硬度一般在 87.2 HV2.5kg。 相似文献
47.
48.
Transposons are DNA sequences that encode functions that promote their movement to new locations in the genome. If unregulated, such movement could potentially insert additional DNA into genes, thereby disrupting gene expression and compromising an organism's viability. Transposable elements are classified by their transposition mechanisms and by the transposases that mediate their movement. The mechanism of movement of the eukaryotic hAT superfamily elements was previously unknown, but the divergent sequence of hAT transposases from other elements suggested that these elements might use a distinct mechanism. Here we have analysed transposition of the insect hAT element Hermes in vitro. Like other transposons, Hermes excises from DNA via double-strand breaks between the donor-site DNA and the transposon ends, and the newly exposed transposon ends join to the target DNA. Interestingly, the ends of the donor double-strand breaks form hairpin intermediates, as observed during V(D)J recombination, the process which underlies the combinatorial formation of antigen receptor genes. Significant similarities exist in the catalytic amino acids of Hermes transposase, the V(D)J recombinase RAG, and retroviral integrase superfamily transposases, thereby linking the movement of transposable elements and V(D)J recombination. 相似文献
49.
50.
Patients with damage to the striate cortex have a subjectively blind region of the visual field, but may still be able to detect and localize targets within this region. But the relative roles in this 'blindsight' of subcortical neural systems, and of pathways to extra-striate visual areas, have been uncertain. Here we report results on two infants in whom one cerebral hemisphere, including both striate and extra-striate visual cortex, needed surgical removal in their first year. Single conspicuous targets in the half-field contralateral to the lesion could elicit fixations, implying detection and orienting by a subcortical system. In contrast, binocular optokinetic nystagmus (OKN), for which a subcortical pathway has often been thought adequate, showed a marked asymmetry. In normal neonates, fixation shifts and OKN have both been taken to reflect subcortical control; our results are consistent with subcortical control for fixation but not for OKN. 相似文献